MCID: EMR002
MIFTS: 16

Emerinopathy

Categories: Rare diseases

Aliases & Classifications for Emerinopathy

MalaCards integrated aliases for Emerinopathy:

Name: Emerinopathy 52

Classifications:



Summaries for Emerinopathy

MalaCards based summary : Emerinopathy is related to limb-girdle muscular dystrophy and emery-dreifuss muscular dystrophy. An important gene associated with Emerinopathy is EMD (Emerin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cytoskeletal Signaling. Related phenotype is muscle.

Related Diseases for Emerinopathy

Diseases related to Emerinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 29.6 LMNA EMD
2 emery-dreifuss muscular dystrophy 29.5 SUN2 LMNA EMD
3 muscular dystrophy 29.5 SUN2 LMNA EMD
4 laminopathy 29.2 SUN2 LMNA EMD
5 rigid spine muscular dystrophy 1 10.2
6 muscle hypertrophy 10.2
7 spinocerebellar ataxia, autosomal recessive 8 9.9 SUN2 EMD
8 reynolds syndrome 9.7 SUN2 LMNA
9 x-linked emery-dreifuss muscular dystrophy 9.7 LMNA EMD
10 muscular disease 9.7 LMNA EMD
11 first-degree atrioventricular block 9.6 LMNA EMD
12 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.6 LMNA EMD
13 lipodystrophy, familial partial, type 5 9.6 LMNA EMD
14 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.6 LMNA EMD
15 cardiomyopathy, dilated, 1a 9.6 LMNA EMD
16 osteopoikilosis 9.6 LMNA EMD
17 buschke-ollendorff syndrome 9.6 LMNA EMD
18 autosomal dominant limb-girdle muscular dystrophy 9.6 LMNA EMD
19 pelger-huet anomaly 9.6 LMNA EMD
20 familial partial lipodystrophy 9.6 LMNA EMD
21 bethlem myopathy 1 9.5 LMNA EMD
22 congenital fiber-type disproportion 9.5 LMNA EMD
23 atrial standstill 1 9.5 LMNA EMD
24 muscle tissue disease 9.4 LMNA EMD
25 walker-warburg syndrome 9.4 LMNA EMD
26 cardiomyopathy, dilated, 1h 9.3 SUN2 LMNA EMD
27 myopathy 9.3 SUN2 LMNA EMD
28 atrial fibrillation 9.3 LMNA EMD
29 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.3 SUN2 LMNA EMD
30 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.3 SUN2 LMNA EMD
31 charcot-marie-tooth disease, axonal, type 2b1 9.3 SUN2 LMNA EMD
32 charcot-marie-tooth disease 9.3 SUN2 LMNA EMD
33 emery-dreifuss muscular dystrophy 1, x-linked 9.3 SUN2 LMNA EMD
34 myopathy, x-linked, with postural muscle atrophy 9.3 SUN2 LMNA EMD
35 greenberg dysplasia 9.3 SUN2 LMNA EMD
36 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.3 SUN2 LMNA EMD
37 hutchinson-gilford progeria syndrome 9.3 SUN2 LMNA EMD
38 muscular dystrophy, congenital, lmna-related 9.3 SUN2 LMNA EMD
39 neuromuscular disease 9.3 SUN2 LMNA EMD
40 arrhythmogenic right ventricular cardiomyopathy 9.2 LMNA EMD
41 dilated cardiomyopathy 9.1 SUN2 LMNA EMD

Graphical network of the top 20 diseases related to Emerinopathy:



Diseases related to Emerinopathy

Symptoms & Phenotypes for Emerinopathy

MGI Mouse Phenotypes related to Emerinopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 EMD LMNA SUN2

Drugs & Therapeutics for Emerinopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies) Recruiting NCT03058185

Search NIH Clinical Center for Emerinopathy

Genetic Tests for Emerinopathy

Anatomical Context for Emerinopathy

Publications for Emerinopathy

Articles related to Emerinopathy:

# Title Authors PMID Year
1
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. 61
27179216 2016
2
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. 61
24839233 2014
3
Muscle MRI in female carriers of emerinopathy. 61
24118169 2013
4
P-wave duration and dispersion in patients with Emery-Dreifuss muscular dystrophy. 61
22011621 2011
5
Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. 61
21596026 2011
6
Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest. 61
20054742 2009
7
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 61
18646565 2007
8
Presence of emerinopathy in cases of rigid spine syndrome. 61
9829281 1998

Variations for Emerinopathy

Expression for Emerinopathy

Search GEO for disease gene expression data for Emerinopathy.

Pathways for Emerinopathy

Pathways related to Emerinopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 SUN2 LMNA EMD
2 11.86 LMNA EMD
3
Show member pathways
11.79 SUN2 LMNA
4
Show member pathways
11.43 LMNA EMD
5
Show member pathways
11.14 LMNA EMD
6
Show member pathways
10.14 LMNA EMD

GO Terms for Emerinopathy

Cellular components related to Emerinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear inner membrane GO:0005637 9.16 SUN2 EMD
2 nuclear membrane GO:0031965 9.13 SUN2 LMNA EMD
3 nuclear envelope GO:0005635 8.8 SUN2 LMNA EMD

Biological processes related to Emerinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope organization GO:0006998 8.96 SUN2 LMNA
2 mitotic nuclear envelope reassembly GO:0007084 8.62 LMNA EMD

Sources for Emerinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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